Defects of intrinsic and innate immunity

Gene: CASP4

Red List (low evidence)

CASP4 (caspase 4)
EnsemblGeneIds (GRCh38): ENSG00000196954
EnsemblGeneIds (GRCh37): ENSG00000196954
OMIM: 602664, Gene2Phenotype
CASP4 is in 2 panels

1 review

Peter McNaughton (Queensland Children's Hospital)

Red List (low evidence)

Single patient with severe disease secondary to B. pseudomallei requiring ECMO. Adjunctive IFN-γ administration as replacement for its failed induction by IL-18 promptly led to clearance of B. pseudomallei and subsequent weaning of support.
Novel homozygous missense mutation in CASP4, at exon 7 c.1030C > T. Peripheral blood mononuclear cells (PBMC) of the patient and her parents showed reduced IFN-γ production, notably to IL-12 stimulation, and decreased IL-18 in response to LPS and increased IL-1B. Cloned cells show impacts on CASP4 activation and pyroptosis.
Sources: Literature
Created: 26 Sep 2023, 6:38 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Susceptibility to meliodiosis

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Hereditary susceptibility to infection, MONDO:0015979, CASP4-related
  • Susceptibility to meliodiosis
OMIM
602664
Clinvar variants
Variants in CASP4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Sep 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: casp4 has been classified as Red List (Low Evidence).

29 Sep 2023, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CASP4 were changed from Susceptibility to meliodiosis to Hereditary susceptibility to infection, MONDO:0015979, CASP4-related; Susceptibility to meliodiosis

29 Sep 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: casp4 has been classified as Red List (Low Evidence).

26 Sep 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Peter McNaughton (Queensland Children's Hospital)

gene: CASP4 was added gene: CASP4 was added to Defects of innate immunity. Sources: Literature Mode of inheritance for gene: CASP4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CASP4 were set to PMID: 37647624 Phenotypes for gene: CASP4 were set to Susceptibility to meliodiosis Review for gene: CASP4 was set to RED